Publications by authors named "Kikue Terada Abe"
Article Synopsis
- A patient with ectrodactyly ectodermal dysplasia-clefting (EEC) syndrome was found to have a deletion on chromosome 19q13.11 after long-term monitoring.
- Researchers recommend that individuals diagnosed with EEC should be tested for this specific microdeletion.
- The study suggests that certain genetic elements should be included in testing to cover a minimal overlapping region related to the microdeletion.
Article Synopsis
- FOXG1 syndrome is primarily caused by mutations in the FOXG1 gene or structural variants affecting its regulatory landscape, but the exact size of this regulatory area remains unclear due to differences in embryonic and fibroblast cell structures.* -
- Research mapping translocation breakpoints indicates that enhancer adoption is not a significant factor contributing to FOXG1 syndrome, suggesting that the associated TAD boundaries may not be critical for FOXG1 regulation in various human cells.* -
- A key regulatory region near the hESC-specific TAD boundary has been identified, and a deletion in this area linked to milder symptoms underscores limitations in using certain data types (like ENCODE) for predicting regulatory interactions.*
Benign cartilaginous tumors represent a spectrum of neoplastic processes with variable clinical and pathologic presentations. These tumors are histologically characterized by the presence of chondrocytes surrounded by a cartilaginous matrix. Few studies describe karyotypic abnormalities in these benign lesions.
View Article and Find Full Text PDFObjective: To evaluate the cardiovascular findings and clinical follow-up of patients with Williams-Beuren syndrome.
Methods: We studied 20 patients (11 males, mean age at diagnosis: 5.9 years old), assessed for cardiovascular abnormalities with electrocardiography and Doppler echocardiography.